ClinVar

NM_001127222.2(CACNA1A):c.4034G>T (p.Arg1345Leu)

Gene:

CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13262789 (on Assembly GRCh38)
• Chr19: 13373603 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.4034G>T (p.Arg1345Leu)

HGVS:

• NC_000019.10:g.13262789C>A
• NG_011569.1:g.248672G>T
• NM_000068.4:c.4046G>T
• NM_001127221.2:c.4037G>T
• NM_001127222.2:c.4034G>TMANE SELECT
• NM_001174080.2:c.4037G>T
• NM_023035.3:c.4046G>T
• NP_000059.3:p.Arg1349Leu
• NP_001120693.1:p.Arg1346Leu
• NP_001120693.1:p.Arg1346Leu
• NP_001120694.1:p.Arg1345Leu
• NP_001167551.1:p.Arg1346Leu
• NP_075461.2:p.Arg1349Leu
• LRG_7t1:c.4037G>T
• LRG_7:g.248672G>T
• LRG_7p1:p.Arg1346Leu
• NC_000019.9:g.13373603C>A
• NM_001127221.1:c.4037G>T

This HGVS expression did not pass validation

Protein change:

R1345L

Molecular consequence:

• NM_000068.4:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127221.2:c.4037G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127222.2:c.4034G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174080.2:c.4037G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_023035.3:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]